3-Hydroxy-3-methylglutaric aciduria

Common Name(s)

3-Hydroxy-3-methylglutaric aciduria (HMG) is a rare genetic condition resulting from a mutation (error) in a person’s DNA. HMG is an organic acid condition because it may lead to harmful amounts of certain organic acids and toxins in the body. Protein in the food we eat is broken down into amino acids, or “building blocks”. We typically eat more protein than needed; therefore we often have more amino acids than we need. Enzymes (special proteins) breakdown the extra amino acids into organic acids and ammonia and then harmless products our body can get rid of. If one of the enzymes needed is missing or not working correctly, the amino acid is not broken all the way down and organic acids builds up in our system. Although organic acids are only mild acids, both organic acids and ammonia can damage our bodies if too much builds up. In this the enzyme, HMG CoA lyase, is unable to break down the amino acid, leucine. HMG CoA lyase also makes ketone bodies from fat, which help store energy. People with HMG are unable to make ketone bodies and properly store energy.

HMG is an autosomal recessive condition. Children typically show signs between 3 months and 2 years of age. Symptoms include poor appetite, tiredness, irritability, weak muscle tone, fever, vomiting, diarrhea, low blood sugar, or behavior changes. Treatment usually includes supplements and a specific diet. Early diagnosis has shown to be effective in improving the health of individuals with HMG. Many babies are screened at birth so that treatment may begin early, however the conditions included in newborn screening vary state by state. For more information, visit Baby’s First Test. Talk with your doctor about the most current treatments. Support groups also are a good source of information. A genetic counselor will help you understand the genetics.

Condition Specific Organizations

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

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Advocacy and Support Organizations

Condition Specific Organizations

Following organizations serve the condition "3-Hydroxy-3-methylglutaric aciduria" for support, advocacy or research.

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Our mission is to connect and network with FOD families and professionals around the world and to provide ongoing emotional and grief support, family stories, practical information about living with these disorders, and medical updates to inform families of new developments in screening, diagnosis, research and treatment. We offer an active facebook group and google Email List, as well as a National Family Conference every 2 years. We also raise funds to train new metabolic professionals and for FOD research. We are a 501c3 nonprofit - Tax ID # 83-0471342.

The Organic Acidemia Association is a volunteer non-profit organization whose mission is to empower families and health care professionals with knowledge in organic acidemia metabolic disorders. We support early intervention through expanded newborn screening, solicit contributions and distribute funding that supports research toward improved treatment and eventual cures in the areas of Organic Acid disorders.

General Support Organizations

Recommended Apps

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

Finding the right clinical trial for 3-Hydroxy-3-methylglutaric aciduria can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "3-Hydroxy-3-methylglutaric aciduria" returned 5 free, full-text research articles on human participants.
First 3 results:

3-Hydroxy-3-methylglutaric aciduria is a rare disorder of organic acid metabolism caused by 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. The disorder was common in neonatal or infant period. Here a case of late onset 3-hydroxy-3-methylglutaric aciduria complicated by leucodystrophy ...

A novel two-base deletion in the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene was found in a Spanish patient with homozygous 3-hydroxy-3-methylglutaric aciduria. Amplification by RT-PCR of the mRNAs showed that the gene was transcribed into three different mRNAs. One showed ...

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "3-Hydroxy-3-methylglutaric aciduria" returned 0 free, full-text review articles on human participants.

No free, full-text review articles on human participants are available at this time.
Please click this link to visit the PubMed website for results on "3-Hydroxy-3-methylglutaric aciduria".

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "3-Hydroxy-3-methylglutaric aciduria" (open studies are recruiting volunteers) and 0 "3-Hydroxy-3-methylglutaric aciduria" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for 3-Hydroxy-3-methylglutaric aciduria can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.